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Page 1
Once again, rare diseases provide a spotlight.
Lal TR, Borger DK, Sidransky E. Lal TR, et al. Mol Genet Metab. 2016 May;118(1):1-2. doi: 10.1016/j.ymgme.2016.03.002. Epub 2016 Mar 5. Mol Genet Metab. 2016. PMID: 27017192 Free PMC article. No abstract available.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S. Fichtman B, et al. Am J Hum Genet. 2019 Jul 3;105(1):48-64. doi: 10.1016/j.ajhg.2019.05.003. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178128 Free PMC article.
Does theFMR1 gene affect IVF success?
Pastore LM, Christianson MS, McGuinness B, Vaught KC, Maher JY, Kearns WG. Pastore LM, et al. Reprod Biomed Online. 2019 Apr;38(4):560-569. doi: 10.1016/j.rbmo.2018.11.009. Epub 2018 Dec 10. Reprod Biomed Online. 2019. PMID: 30711457 Free PMC article. Review.
68 results